Basic Elements On Medical Genetics

Mode of Delivery

Face to Face

Prerequisites and Co-Requisites

None

Recommended Optional Programme Components

MEDICAL GENETICS II

Course Contents

Structure of DNA and chromosomes, cell cycle, transcription and translation, autosomal single gene inheritance autosomal dominant inheritance, autosomal recessive inheritance, sex-linked inheritance, X-linked recessive inheritance, X-linked dominant inheritance, Y-linked inheritance, mitochondrial inheritance, genomic imprinting, uniparental disomy, DNA methylation and CpG islands, methods used in molecular genetics, cloning techniques, procedures for analysing nucleic asids, procedures for analysing proteins, genetic variations, polymorphisms, mutations, human populations, genotype, phenotype, genotype frequencies, allele frequencies, Hardy-Weinberg law, mechanisms of genetic disorders, molecular medicine, pharmacogenetics, cancer genetics, immunogenetics, genetic counseling.

Weekly Schedule

1) The basic rules of medical genetics
2) The structure of DNA and chromosomes
3) Cell cycle
4) transcription-translation, autosomal dominant and recessive inheritance models
5) Mechanisms of X-linked inheritance, mitochondrial inheritance
6) mosaisizm, genomic imprinting
7) uniparental disomy
8) Midterm examination/Assessment
9) Molecular clonning method
10) methods of analysis of nucleic acids
11) protein analysis
12) Genetic variations
13) polimorfism, mutations
14) human populations, genotype, phenotype, genotype frequencies, allele frequencies
15) pathogenesis
16) Final examination

Recommended or Required Reading

Planned Learning Activities and Teaching Methods

1) Lecture
2) Question-Answer
3) Discussion
4) Group Study
5) Lab / Workshop

Assessment Methods and Criteria

Contribution of Semester Studies to Course Grade	30%
Number Percentage Semester Studies Midterm Examination 1 80% Practices 1 20%
Contribution of Final Examination to Course Grade	70%
Total	100%

Language of Instruction

Turkish

Work Placement(s)

Not Required